Canonical Allele Identifier: CA432232296

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576548-G-A
• MyVariant Identifiers: chr2:g.241515965G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576548G>A , CM000664.2:g.240576548G>A	GRCh38
NC_000002.11:g.241515965G>A , CM000664.1:g.241515965G>A	GRCh37
NC_000002.10:g.241164638G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1524G>A MANE Select	ENSP00000270357.4:p.Glu508=
ENST00000270357.8:c.831G>A	ENSP00000270357.3:p.Glu277=
ENST00000437406.1:c.110-20G>A	ENSP00000403319.1:n.110-20G>A
ENST00000451363.5:c.165G>A	ENSP00000414661.1:p.Glu55=
ENST00000464550.5:n.360G>A
ENST00000471657.1:n.327G>A
ENST00000481757.5:n.2458G>A
ENST00000486058.5:n.1637G>A
ENST00000493398.5:n.670G>A
NM_018226.4:c.1524G>A	NP_060696.4:p.Glu508=
XM_005247036.3:c.1511-20G>A	XP_005247093.1:n.1511-20G>A
NM_018226.5:c.1524G>A	NP_060696.4:p.Glu508=
XM_005247036.4:c.1511-20G>A	XP_005247093.1:n.1511-20G>A
NM_018226.6:c.1524G>A MANE Select	NP_060696.4:p.Glu508=